Canonical Allele Identifier: CA4302606

Gene: HIP1

Linked Data

• dbSNP Id: rs782761102
• ExAC: 7:75211425 G / A
• gnomAD v2: 7-75211425-G-A
• gnomAD v4: 7-75582109-G-A
• MyVariant Identifiers: chr7:g.75211425G>A (hg19) ; chr7:g.75582109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582109G>A , CM000669.2:g.75582109G>A	GRCh38
NC_000007.13:g.75211425G>A , CM000669.1:g.75211425G>A	GRCh37
NC_000007.12:g.75049361G>A	NCBI36
NG_023251.2:g.161853C>T
NG_023251.3:g.161853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.508C>T MANE Select	ENSP00000336747.6:p.Leu170=
ENST00000336926.10:c.508C>T	ENSP00000336747.6:p.Leu170=
ENST00000420909.1:c.421C>T	ENSP00000414280.1:p.Leu141=
ENST00000434438.6:c.508C>T	ENSP00000410300.2:p.Leu170=
ENST00000616821.4:c.421C>T	ENSP00000484528.1:p.Leu141=
NM_001243198.2:c.508C>T	NP_001230127.1:p.Leu170=
NM_005338.6:c.508C>T	NP_005329.3:p.Leu170=
XM_005250304.2:c.421C>T	XP_005250361.1:p.Leu141=
XM_005250305.2:c.406C>T	XP_005250362.1:p.Leu136=
XM_011516116.1:c.508C>T	XP_011514418.1:p.Leu170=
XM_011516116.2:c.508C>T	XP_011514418.1:p.Leu170=
XM_017012099.1:c.466C>T	XP_016867588.1:p.Leu156=
NM_005338.7:c.508C>T MANE Select	NP_005329.3:p.Leu170=
NM_001243198.3:c.508C>T	NP_001230127.1:p.Leu170=
NM_001382444.1:c.406C>T	NP_001369373.1:p.Leu136=
NM_001382445.1:c.421C>T	NP_001369374.1:p.Leu141=